From the Department of Orthopaedic Surgery, Brigham and Women's Hospital, Boston, MA (Zhang, Makhni, Kang, and Blazar), and the Harvard Medical School, Boston, MA (Zhang, Makhni, Kang, and Blazar).
J Am Acad Orthop Surg. 2021 May 15;29(10):e488-e496. doi: 10.5435/JAAOS-D-20-01146.
Amyloidosis is a disorder of misfolded proteins in human tissues, which can result in morbid cardiac and neurological disease. Historically, the utility of tissue biopsy during orthopaedic procedures to detect amyloidosis has been limited because no disease-modifying therapies were available; however, new drug therapies have recently emerged for the treatment of amyloidosis. Although these novel pharmaceuticals show promise for slowing disease progression, they are primarily effective in the early stages of amyloidosis, underscoring the importance of early diagnosis. Common orthopaedic manifestations of amyloidosis include carpal tunnel syndrome, trigger finger, spontaneous distal biceps tendon rupture, rotator cuff disease, and lumbar spinal stenosis. Carpal tunnel syndrome is frequently the earliest manifestation of amyloidosis, on average preceding a formal diagnosis of amyloidosis by over four years. By recognizing the constellation of musculoskeletal symptoms in the patient with amyloidosis, orthopaedic surgeons can play an active role in patient referral, early detection of systemic disease, and prompt initiation of disease-modifying treatment. There may be a role for selective biopsy for amyloid deposition in at-risk patients during routine orthopaedic procedures.
淀粉样变性是一种人类组织中错误折叠蛋白质的疾病，可导致严重的心脏和神经系统疾病。从历史上看，由于缺乏可改变疾病的治疗方法，在骨科手术期间进行组织活检以检测淀粉样变性的实用性有限；然而，最近出现了新的药物治疗方法来治疗淀粉样变性。尽管这些新型药物在减缓疾病进展方面显示出希望，但它们主要在淀粉样变性的早期阶段有效，这突显了早期诊断的重要性。淀粉样变性的常见骨科表现包括腕管综合征、扳机指、自发性肱二头肌长头肌腱断裂、肩袖疾病和腰椎管狭窄症。腕管综合征通常是淀粉样变性的最早表现，平均比淀粉样变性的正式诊断提前四年以上。通过识别淀粉样变性患者的骨骼肌肉症状组合，骨科医生可以在患者转诊、早期发现系统性疾病以及及时开始疾病修饰治疗方面发挥积极作用。在常规骨科手术中，对于有风险的患者，选择性活检淀粉样沉积物可能有一定作用。
